Rare Diseases: At The Movies (06.09.13)

June 9, 2013

This is a second in a series on rare diseases/orphan drugs and the movies. The April Blog Post took a look at several movies released in the last few years. Another Blog Post next week will be published on this topic.

Journal of Medicine and Movies

The journal, Journal of Medicine and Movies (JMM), is a “publication that analyzes the contents of films from a biohealth perspective for educational, awareness, and dissemination purposes.” The publication founders are José Elías García Sánchez and Enrique García Sánchez, professors at the University of Salamanca in Spain. The free journal is published online in both English and Spanish every several months.

An Editorial from a 2005 issue of the publication, “Rare Diseases in the Cinema”, briefly outlines how the cinema can be used as an educational tool in the field of health for healthcare professionals, students, and the general public. The cinema can be used as a tool

“ … to increase familiarity with diseases foreign to the common practice of medicine … the use of the cinema, in a teaching/learning process is of less interest than using cinema to clarify doubts about the strange, uncommon diseases …”.

“Alphée Of The Stars”

“Alphée of the Stars” tells the story of a family’s journey to prove the world incorrect about their 5-year daughter Alphée who has a rare genetic disorder, Smith-Lemli-Opitz Syndrome, which affects neuromuscular development. When faced with the decision to put their daughter in classes for the “intellectually” challenged, filmmaker Hugo Latulippe and Laure Waridel leave Quebec, Canada, and take Alphée and brother Colin to a Swiss village for at least a year of progressive integrated pre-school. The film is shown recently at the Canadian International Documentary Festival, where it was theWINNER – Special Jury Prize – Canadian Feature Documentary.

“Lorenzo’s Oil”

The 1992 classic movie by George Miller, “Lorenzo’s Oil”, is about the rare disease Adrenoleukodystrophy (ALD) and a family’s journey to find a cure for their son diagnosed with the disease. It is a true story about Augusto and Michaela Odone, parents who search relentlessly for a cure for ALD. The family searches for a treatment for their son by studying different areas of science. The family finds an oil that is a mixture of erucic acid and oleic acid, that is successful in normalizing the accumulation of the very long chain fatty acids in the brain that had been causing their son’s steady decline – thereby, halting the progression of the disease. There was still a great deal of neurological damage remaining which could not be reversed until new treatments were found to regenerate the myelin sheath (a lipid insulator) around the nerves. The movie stars Susan Sarandon, Nick Nolte, Peter Ustinov, and Laura Linney.

In 1989, Augusto and Michaela Odone establish The Myelin Project, a 501(c)3 non-profit organization, with the goal of accelerating research on myelin repair.

ALD is a caused by a genetic abnormality affecting the X chromosome that results in high level of fats in the blood, which leads to brain degeneration. ALD takes several forms, which can vary widely in their severity and progression.